Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000496811 [[153990334, 153994145], [153994535, 153994688], [153995386, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013128], [154017626, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033952], [154041962, 154042286]] [[153993959, 153994145], [153994535, 153994688], [153995386, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013128], [154017626, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033952], [154041962, 154042205]]
ENST00000308361 [[153993456, 153994145], [153994535, 153994688], [153995386, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013128], [154017626, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033952], [154041962, 154042249]] [[153993959, 153994145], [153994535, 153994688], [153995386, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013128], [154017626, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033952], [154041962, 154042205]]
ENST00000544526 [[153993457, 153994145], [153994535, 153994688], [153995386, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154017518, 154017525], [154017619, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033952], [154041962, 154042286]] [[153993959, 153994145], [153994535, 153994688], [153995386, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154017518, 154017525], [154017619, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033952], [154041962, 154042205]]
ENST00000329463 [[153993959, 153994145], [153994535, 153994688], [153995386, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013086], [154017626, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033952], [154041962, 154042205]] [[153993959, 153994145], [153994535, 153994688], [153995386, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013086], [154017626, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033952], [154041962, 154042205]]
ENST00000481941 [[153995423, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013128], [154017626, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033952], [154036869, 154037073]] [[153995423, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013128], [154017626, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033937]]
ENST00000469977 [[154002441, 154002458], [154002602, 154002776], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013116]] [[154002441, 154002458], [154002602, 154002776], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013116]]
ENST00000481332 [[154002569, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010367]] None
ENST00000495598 [[153993817, 153994145], [153994535, 153994688], [153995386, 153995624]] None
ENST00000477549 [[153994341, 153994688], [153995386, 153995683]] None
ENST00000479934 [[153995413, 153995507], [153998367, 153998458], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776]] [[153998443, 153998458], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776]]
ENST00000460695 [[153996283, 153998458], [153998551, 153998651], [154000976, 154001007]] None
ENST00000460875 [[154021132, 154021199], [154022594, 154022761], [154022882, 154023126]] None
ENST00000462464 [[154027584, 154027612], [154029424, 154030037]] None
ENST00000491011 [[154032439, 154033069], [154033827, 154033952], [154041962, 154042040]] None
NM_020865 [[153993456, 153994145], [153994535, 153994688], [153995386, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013128], [154017626, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033952], [154041962, 154042286]] [[153993959, 153994145], [153994535, 153994688], [153995386, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013128], [154017626, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033952], [154041962, 154042205]]
NM_001114397 [[153993456, 153994145], [153994535, 153994688], [153995386, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013086], [154017626, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033952], [154041962, 154042286]] [[153993959, 153994145], [153994535, 153994688], [153995386, 153995507], [153998367, 153998458], [153998551, 153998651], [154000976, 154001060], [154002371, 154002458], [154002602, 154002776], [154006654, 154006753], [154007497, 154007615], [154010339, 154010483], [154011536, 154011601], [154013072, 154013086], [154017626, 154017714], [154018382, 154018485], [154018775, 154018916], [154021117, 154021199], [154022594, 154022761], [154022882, 154022957], [154024004, 154024084], [154027441, 154027612], [154029424, 154029463], [154032834, 154033069], [154033827, 154033952], [154041962, 154042205]]
Promoter
Chrom Start End Description
chr3 154042214 154042229 CAGE_peak_2_at_DHX36_5end
chr3 154042235 154042290 CAGE_peak_1_at_DHX36_5end
chr3 154042775 154042780 CAGE_peak_8_at_DHX36_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I154366 154366809 154368291 0.2 [{'connected_gene': 'DHX36', 'score': 11.14}, {'connected_gene': 'GPR149', 'score': 10.74}, {'connected_gene': 'DDX50P2', 'score': 0.39}]
chr3 GH03I154322 154322514 154325502 2.02 [{'connected_gene': 'DHX36', 'score': 561.65}, {'connected_gene': 'ARHGEF26-AS1', 'score': 4.62}, {'connected_gene': 'ARHGEF26', 'score': 4.5}, {'connected_gene': 'LOC105374167', 'score': 0.19}]
chr3 GH03I154252 154252989 154253457 0.96 [{'connected_gene': 'LOC105374167', 'score': 550.77}, {'connected_gene': 'DHX36', 'score': 11.07}, {'connected_gene': 'ARHGEF26', 'score': 0.12}]
chr3 GH03I153957 153957953 153960669 0.56 [{'connected_gene': 'ENSG00000201398', 'score': 11.01}, {'connected_gene': 'DHX36', 'score': 9.74}, {'connected_gene': 'ARHGEF26', 'score': 6.25}, {'connected_gene': 'ARHGEF26-AS1', 'score': 5.6}, {'connected_gene': 'LINC02006', 'score': 5.4}, {'connected_gene': 'PIR46913', 'score': 0.37}]